ArticleGene expression patterns : GEP2019
Expression pattern of Kmt2d in murine craniofacial tissues.
Article in Gene expression patterns : GEP, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- The tectum transversum maintains patency of the developing coronal suture.Development (Cambridge, England) · 2026Article
- Characterizing expression pattern of Six2Cre during mouse craniofacial development.Genesis (New York, N.Y. : 2000) · 2023Article
- Characterizing the role of Pdgfra in calvarial development.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners.Stem cells international · 2022Article
- KMT2D deficiency disturbs the proliferation and cell cycle activity of dental epithelial cell line (LS8) partially via Wnt signaling.Bioscience reports · 2021Article
- Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.European journal of human genetics : EJHG · 2021Article
- Deregulated Rac1 Activity in Neural Crest Controls Cell Proliferation, Migration and Differentiation During Midbrain Development.Frontiers in cell and developmental biology · 2021Article
- The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.BMC musculoskeletal disorders · 2020Article
- KMT2C/D COMPASS complex-associated diseases [KClinical epigenetics · 2020Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Formation of the calvaria is a multi-staged process and is regulated by multiple genetic factors. Disruption of normal calvarial development usually causes craniosynostosis, a prevalent birth defect characterized by premature fusion of calvarial bone. Recent studies have identified mutations of KMT2D allele in patients with craniosynostosis, indicating a potential role for Kmt2d in calvarial development. KMT2D mutations have also been implicated in Kabuki syndrome, which features a distinct facial appearance, skeletal abnormality, growth retardation and intellectual disability. However, the expression pattern of Kmt2d has not been fully elucidated. In the present study we examined the expression pattern of Kmt2d at multiple stages of embryo development in mice, with a focus on the craniofacial tissues. Our in situ hybridization results showed that Kmt2d mRNA is expressed in the developing calvarial osteoblasts, epithelia and neural tissues. Such an expression pattern is in line with the phenotypes of Kabuki syndrome, suggesting that Kmt2d plays an intrinsic role in normal development and homeostasis of these craniofacial tissues.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.